D36N (p.Asp36Asn) variant of RHEB (GTP-binding protein Rheb)
D36N (p.Asp36Asn) in RHEB (GTP-binding protein Rheb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D36N (p.Asp36Asn) variant details
- p.Asp36Asn
- gnomAD rs1454894396
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.50
- MetaLR 0.56
- MetaSVM 0.12
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available